S35N (p.Ser35Asn) variant of ATXN1 (Ataxin-1)
S35N (p.Ser35Asn) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S35N (p.Ser35Asn) variant details
- p.Ser35Asn
- gnomAD rs1229618656
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.08
- AlphaMissense 0.21
- MetaLR 0.40
- MetaSVM -0.18
- CADD 14.60
- PolyPhen-2 0.95
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available